Mutagenetix > Incidental Mutation

Incidental Mutation 'R1202:Pacs1'

100227

Institutional Source

Beutler Lab

Gene Symbol

Pacs1

Ensembl Gene

ENSMUSG00000024855

Gene Name

phosphofurin acidic cluster sorting protein 1

Synonyms

MMRRC Submission

039272-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1202 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5183714-5323138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5185265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 885 (P885S)

Ref Sequence

ENSEMBL: ENSMUSP00000025786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025786]

AlphaFold

Q8K212

Predicted Effect

probably damaging
Transcript: ENSMUST00000025786
AA Change: P885S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: P885S

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
low complexity region	27	46	N/A	INTRINSIC
low complexity region	51	97	N/A	INTRINSIC
low complexity region	276	290	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	359	372	N/A	INTRINSIC
Pfam:Pacs-1	546	958	2e-193	PFAM

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.6%
20x: 86.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	C	4: 144,250,236 (GRCm39)	F137L	probably benign	Het
Cct3	T	C	3: 88,225,835 (GRCm39)		probably null	Het
Fermt3	A	G	19: 6,980,850 (GRCm39)	F294L	probably damaging	Het
Fmn2	A	T	1: 174,440,101 (GRCm39)	K58*	probably null	Het
Fndc5	G	A	4: 129,033,238 (GRCm39)	V102M	probably damaging	Het
Gle1	C	T	2: 29,839,277 (GRCm39)	A523V	probably damaging	Het
Hoxd11	C	T	2: 74,512,921 (GRCm39)	A62V	possibly damaging	Het
Il23r	A	G	6: 67,455,937 (GRCm39)	V177A	possibly damaging	Het
Impdh2	G	A	9: 108,440,386 (GRCm39)	R224Q	probably damaging	Het
Larp4b	A	G	13: 9,216,362 (GRCm39)	T516A	possibly damaging	Het
Mtmr2	T	C	9: 13,714,748 (GRCm39)	Y431H	probably benign	Het
N4bp1	T	C	8: 87,571,515 (GRCm39)	T828A	probably benign	Het
Nphp4	G	A	4: 152,573,186 (GRCm39)		probably null	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Pabpc1l	G	T	2: 163,879,091 (GRCm39)	V313F	possibly damaging	Het
Scn3a	T	C	2: 65,336,491 (GRCm39)	N705S	probably benign	Het
Sema4g	G	T	19: 44,986,696 (GRCm39)	R383L	probably benign	Het
Slc26a10	A	G	10: 127,009,217 (GRCm39)	L648P	probably damaging	Het
St8sia2	A	T	7: 73,621,783 (GRCm39)	V37E	probably benign	Het
Tmem209	C	G	6: 30,508,789 (GRCm39)	V6L	probably benign	Het
Tmprss11a	T	A	5: 86,559,784 (GRCm39)		probably null	Het
Ube2o	C	T	11: 116,432,408 (GRCm39)	D853N	probably damaging	Het
Usp17lb	G	A	7: 104,491,695 (GRCm39)	S6F	probably damaging	Het
Vmn2r74	G	A	7: 85,610,545 (GRCm39)	T49I	possibly damaging	Het
Zfp236	T	A	18: 82,646,291 (GRCm39)	T1041S	probably benign	Het

Other mutations in Pacs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Pacs1	APN	19	5,203,726 (GRCm39)	missense	probably damaging	0.98
IGL01335:Pacs1	APN	19	5,192,660 (GRCm39)	missense	probably damaging	1.00
IGL01717:Pacs1	APN	19	5,218,000 (GRCm39)	missense	probably damaging	1.00
IGL02453:Pacs1	APN	19	5,185,033 (GRCm39)	missense	probably damaging	1.00
IGL02887:Pacs1	APN	19	5,185,138 (GRCm39)	splice site	probably benign
Batavian	UTSW	19	5,206,441 (GRCm39)	missense	possibly damaging	0.71
chicory	UTSW	19	5,189,325 (GRCm39)	missense	probably benign	0.33
endive	UTSW	19	5,322,611 (GRCm39)	nonsense	probably null
Escarole	UTSW	19	5,206,384 (GRCm39)	critical splice donor site	probably null
frisee	UTSW	19	5,186,819 (GRCm39)	missense	probably damaging	1.00
R0240:Pacs1	UTSW	19	5,206,402 (GRCm39)	missense	possibly damaging	0.69
R0240:Pacs1	UTSW	19	5,206,402 (GRCm39)	missense	possibly damaging	0.69
R0316:Pacs1	UTSW	19	5,185,149 (GRCm39)	splice site	silent
R0369:Pacs1	UTSW	19	5,191,726 (GRCm39)	missense	probably damaging	1.00
R0443:Pacs1	UTSW	19	5,322,611 (GRCm39)	nonsense	probably null
R0973:Pacs1	UTSW	19	5,193,857 (GRCm39)	missense	probably damaging	1.00
R0973:Pacs1	UTSW	19	5,193,857 (GRCm39)	missense	probably damaging	1.00
R0974:Pacs1	UTSW	19	5,193,857 (GRCm39)	missense	probably damaging	1.00
R1672:Pacs1	UTSW	19	5,202,337 (GRCm39)	missense	probably benign	0.00
R1689:Pacs1	UTSW	19	5,322,643 (GRCm39)	unclassified	probably benign
R1842:Pacs1	UTSW	19	5,205,912 (GRCm39)	missense	probably damaging	0.96
R1847:Pacs1	UTSW	19	5,203,742 (GRCm39)	missense	probably damaging	0.99
R3884:Pacs1	UTSW	19	5,205,787 (GRCm39)	missense	probably damaging	0.99
R4577:Pacs1	UTSW	19	5,193,861 (GRCm39)	nonsense	probably null
R4630:Pacs1	UTSW	19	5,206,384 (GRCm39)	critical splice donor site	probably null
R5029:Pacs1	UTSW	19	5,192,299 (GRCm39)	missense	probably benign	0.03
R5198:Pacs1	UTSW	19	5,189,325 (GRCm39)	missense	probably benign	0.33
R5223:Pacs1	UTSW	19	5,195,169 (GRCm39)	missense	probably benign	0.00
R5464:Pacs1	UTSW	19	5,197,235 (GRCm39)	missense	probably benign
R5695:Pacs1	UTSW	19	5,186,819 (GRCm39)	missense	probably damaging	1.00
R6128:Pacs1	UTSW	19	5,202,400 (GRCm39)	splice site	probably null
R6335:Pacs1	UTSW	19	5,210,005 (GRCm39)	missense	probably damaging	1.00
R6802:Pacs1	UTSW	19	5,202,812 (GRCm39)	missense	probably damaging	0.99
R6831:Pacs1	UTSW	19	5,210,823 (GRCm39)	missense	probably damaging	1.00
R7071:Pacs1	UTSW	19	5,206,402 (GRCm39)	missense	possibly damaging	0.69
R7200:Pacs1	UTSW	19	5,206,441 (GRCm39)	missense	possibly damaging	0.71
R7248:Pacs1	UTSW	19	5,189,003 (GRCm39)	missense	probably damaging	1.00
R7576:Pacs1	UTSW	19	5,195,148 (GRCm39)	missense	probably benign	0.09
R7682:Pacs1	UTSW	19	5,202,727 (GRCm39)	missense	probably damaging	0.99
R7715:Pacs1	UTSW	19	5,191,709 (GRCm39)	missense	probably benign	0.01
R7738:Pacs1	UTSW	19	5,202,378 (GRCm39)	missense	probably benign	0.11
R8339:Pacs1	UTSW	19	5,192,651 (GRCm39)	missense	probably damaging	1.00
R8930:Pacs1	UTSW	19	5,185,030 (GRCm39)	missense	probably damaging	1.00
R8932:Pacs1	UTSW	19	5,185,030 (GRCm39)	missense	probably damaging	1.00
R9043:Pacs1	UTSW	19	5,188,964 (GRCm39)	missense	probably benign	0.23
R9211:Pacs1	UTSW	19	5,189,057 (GRCm39)	missense	probably damaging	0.99
R9459:Pacs1	UTSW	19	5,195,098 (GRCm39)	critical splice donor site	probably null
R9584:Pacs1	UTSW	19	5,322,622 (GRCm39)	missense	probably benign
R9608:Pacs1	UTSW	19	5,193,862 (GRCm39)	missense	probably damaging	1.00
R9732:Pacs1	UTSW	19	5,184,997 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTAAAACCCTCAGGGAGGATGTG -3'
(R):5'- TTTGGAGCCTATCTGACCCCAGAG -3'

Sequencing Primer
(F):5'- AGGATGTGGCTCCCTTCC -3'
(R):5'- TGACCCCAGAGCTTCACTG -3'

Posted On

2014-01-15